A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673065



Internal ID9743715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124915183..125036546hg38UCSC Ensembl
Outerchr11:124785079..124906442hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38121364
hg19121364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745189
Supporting Variants
SamplesSSM031
Known GenesCCDC15, HEPACAM, HEPN1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6673065
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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